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| Biselli,J.M; Goloni-Bertollo,E.M; Haddad,R; Eberlin,M.N; Pavarino-Bertelli,E.C. |
| Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR), of A2756G polymorphism in the methionine synthase gene (MTR), and of A80G polymorphism in the reduced folate carrier 1 gene on Hcy concentrations in Brazilian DS patients. Fifty-six individuals with free trisomy 21 were included in the study. Plasma Hcy concentrations were measured by liquid chromatography_tandem mass spectrometry with linear regression coefficient r² = 0.9996, average... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Down syndrome; Trisomy 21; Polymorphism; Homocysteine; Mass spectrometry (LC-MS/MS). |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000100006 |
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